Marshall-Smith syndrome
ORPHA:561Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)11
HP:0001382Joint hypermobility
HP:0000278Retrognathia
HP:0000463Anteverted nares
HP:0000520Proptosis
HP:0000963Thin skin
HP:0001249Intellectual disability
HP:0001508Failure to thrive
HP:0003100Slender long bone
HP:0005616Accelerated skeletal maturation
HP:0006487Bowing of the long bones
HP:0011220Prominent forehead
Частый (30–79%)11
HP:0000194Open mouth
HP:0000316Hypertelorism
HP:0000405Conductive hearing impairment
HP:0000592Blue sclerae
HP:0000978Bruising susceptibility
HP:0002230Generalized hirsutism
HP:0002650Scoliosis
HP:0002659Increased susceptibility to fractures
HP:0003196Short nose
HP:0004349Reduced bone mineral density
HP:0010808Protruding tongue
Периодический (5–29%)7
HP:0000212Gingival overgrowth
HP:0000453Choanal atresia
HP:0000648Optic atrophy
HP:0001321Cerebellar hypoplasia
HP:0001363Craniosynostosis
HP:0002119Ventriculomegaly
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 74 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)